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Pediatrie > Endo > Flashcards

Endo Flashcards

1
Q

Boala Von Gierke

A

Tip I
Deficit G6P
Apare in primele luni de viața (3-4)
HM, hipoglicemie->convulsii
Fata de păpușa, extrem subțiri
Pc: hipoglicemie->ac lactic crescut, lipide crescute, ac uric crescut
Tratament: dieta- evitare fructoza, galactoza, supriza, menținere normala a glicemiei

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2
Q

Boala Pompe

A 
Tip II
Def de alfa glucozidaza lizozomala
Cardiomagalie, insuf resp
hipotonie 
Tratament: substitutie enzimatica
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3
Q

Boala Cori

A 
Tip III
Def enzima de ramificare 
Ficat, mușchi 
hipoglicemie medie 
Tratament: dieta- Hiperproteica, glucoza 
Transplant hepatic
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4
Q

Boala Anderson

A

Tip IV
Def enzima de ramificare (mutație GBE-1)
AR
HM, deficit de creste
Inima și muschii pot fi afectați in formele cu debut tardiv
Tratament: transplant hepatic

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5
Q

Boala McArdle

A

Tip V
Def de fosforilaza glicogen muscular
Afectare mușchi scheletici: crampe, mialgii, fatigabilitate
Tratament: suplimentare cu sucroza

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Pediatrie (10 decks)

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